Author: Julie Bannister

SCN8A gene

Mature female doctor discussing medical report with nurses in hospital hallway. Senior general practitioner discussing patient case status with group of medical staff after surgery. Doctor working on digital tablet while in conversation with healthcare workers, copy space.

The SCN8A gene is one of many genes that are associated with epilepsy and other related disorders. Mutations in this gene can lead to changes in the normal functioning of nerve cells, resulting in recurrent…

PNKD gene

Shot of a surgeon looking at a monitor in an operating room

Pnkd gene is a gene responsible for the development of the paroxysmal nonkinesigenic dyskinesia (PNKD), a neurological disorder characterized by involuntary movements. The PNKD gene is located on chromosome 2q35 and it encodes a protein…

TFAP2B gene

Portrait of confident young female pharmacist leaning to a medicine shelf with a digital tablet

The TFAP2B gene is a key regulator of gene expression and plays a crucial role in various biological processes. It is involved in the development and function of numerous tissues and organs, including the central…

ITGB3 gene

Doctor sitting at desk and writing a prescription for her patient

The ITGB3 gene is a gene that is only found in humans. It is located within the Glanzmann thrombasthenia (GT) blood clotting disorder. This gene is responsible for the production of the beta3 subunit of…

PCSK9 gene

Young female receptionist talking on phone in clinic while sitting and looking on pc monitor

The PCSK9 gene is a genetic variant that plays a crucial role in the regulation of cholesterol levels in the bloodstream. It provides instructions for making a protein known as proprotein convertase subtilisin/kexin type 9…

AIRE gene

Close-up of a male doctor hand hold a silver pen and showing pad in hospital. Doctor giving prescription to the patient and filling up medical form at a clipboard

The AIRE gene, also known as AutoImmune REgulator gene, is responsible for coding a protein that plays a crucial role in the development and function of the immune system. Mutations in this gene can lead…

Smith-Lemli-Opitz syndrome

Female Scientist Working in The Lab, Using Computer Screen

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects the development and function of many parts of the body. It is caused by mutations in the DHCR7 gene. This gene provides instructions for making…

AGXT gene

Rear View Of Woman Working From Home On Computer In Home Office Stretching At Desk

The AGXT gene, also known as alanine-glyoxylate aminotransferase gene, is an essential gene responsible for the synthesis of the alanine-glyoxylate aminotransferase enzyme. This enzyme plays a crucial role in the metabolism of glyoxylate, an intermediate…

Pseudohypoaldosteronism type 1

A female pharmacist sits with a male customer in the pharmacist consultation area and discusses his prescription and choice of medication viewing the details on a digital tablet. In the background a senior woman and granddaughter stand at the dispensing counter and are served by a female pharmacy assistant .

Pseudohypoaldosteronism type 1 is a rare genetic condition that causes a loss of functioning in certain specialized cells in the skin, blood, and other tissues. This condition is associated with high levels of potassium in…

COL5A2 gene

Doctor talking to a happy Latin American family at the hospital - healthcare and medicine concepts

COL5A2 gene The COL5A2 gene provides instructions for making a protein called alpha-2 chain of type V collagen. This protein is found in connective tissues throughout the body, including skin, bone, tendon, and blood vessels.…